Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience

Diagnosis of primary complement deficiencies requires a high index of suspicion. Thus, susceptible patients are often underdiagnosed and untreated. Here, we present a multicenter experience with two novel inborn errors of the classical complement system. This is a retrospective multicenter analysis...

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Bibliographic Details
Published in:European journal of pediatrics 2022-05, Vol.181 (5), p.1997-2004
Main Authors: Shamriz, Oded, Simon, Amos J., Frizinsky, Shirley, Lev, Atar, Megged, Orli, Barel, Ortal, Marcus, Nufar, Tal, Yuval, Somech, Raz, Toker, Ori
Format: Article
Language:English
Subjects:
Child
Children
Complement C6
Complement C8 - genetics
Complement system
Complement System Proteins - genetics
Consanguinity
Diagnosis
Exons
Female
Hereditary Complement Deficiency Diseases
Humans
Male
Medical diagnosis
Medical records
Medicine
Medicine & Public Health
Meningitis
Meningitis, Meningococcal
Meningococcal Infections
Mutation
Neisseria meningitidis
Original Article
Patients
Pediatrics
Retrospective Studies
Risk factors
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Summary:Diagnosis of primary complement deficiencies requires a high index of suspicion. Thus, susceptible patients are often underdiagnosed and untreated. Here, we present a multicenter experience with two novel inborn errors of the classical complement system. This is a retrospective multicenter analysis of computerized medical records of children (
ISSN:1432-1076
0340-6199
1432-1076
DOI:10.1007/s00431-022-04397-9